Seems to be an advocacy and information gap for people like me, diagnosed with an ascending aortic aneurysm (4.5cm in my case) without other symptoms, and without Marfan syndrome. There's a Marfan support group, and there's an Aortic Dissection support group. There's quite a lot of information about abdominal aortic aneurysms, for which there's an NHS screening programme and active research on improved minimally-invasive stenting for treatment of it. The BHF has an information leaflet on AAA, but is silent on my condition. There's an emerging technology (PEARS) which could benefit people like me, is rightly being prioritised for people with Marfan syndrome, but ... where is the discussion about the framework for extending access, running trials and developing commissioning guidance on this for people like me?
Thoracic/ascending aortic aneurysms - British Heart Fou...
Thoracic/ascending aortic aneurysms
Hi JulianM,
Very interesting post. I have a thoracic ascending aortic aneurysm which extends into my aortic arch ( 4.1 cm ) but mine is secondary to a rare autoimmune disease called Behcets Syndrome.
It was an incidental finding on a CT scan of my chest and I had to fight for 4 yrs to get Dr’s to take it seriously and monitor it after initially being told it was nothing to worry about.
I had to look up PEARS , when I did I remember having read something about it in the past.
To me the big question is how can we predict who’s aneurysm will eventually rupture and which ones will stay stable as scans don’t perform that function. I was at a conference the other week and there was a short presentation about Desmosine which can be used as a biomarker for elastin breakdown. They had run a small study looking at whether Desmosine levels could be used a predictor of aneurysm rupture.
The bottom line here is risk V benefit as all surgery to repair aneurysms carry risk, I think it would be a real step forward if we could more accurately predict who is at risk.
In the meantime all we can do is keep asking these questions of forums such as these and pushing for more research. I am involved in Patient and Public Involvement in Research so I can help set the research agenda and promote the need for research into this. I try not to think about my aneurysm ( I have lots of other health problems ) but it does feel like a ticking time bomb at times.
Thanks for that: really helpful thoughts about how the whole area might be made less scary both for patients and NHS commissioners. I see there is also a well-organised Behcet's Syndrome Society; best of luck... I don't even have a bicuspid aortic valve! Found my aneurysm as a volunteer on a research study of older athletes...
I do think that Desmosine and hopefully other biomarkers will provide a way forward and potentially as a screening tool as well.
There was a recent study looking at AAA screening in women via ultrasound and the costs were prohibitive compared to the amount of aneurysms found. It is a vexed question, to screen or not to screen? I suspect I am like you, no risk factors for a thoracic ascending aneurysm. Behects Syndrome is rare and having a thoracic aortic aneurysm as a result of Behcets is very rare as well!
Hi, this has been a problem in my family and trying to find out more...is this an inherited condition in your family...?
I don't seem to have any family history (and we have checked). I don't have a connective tissue disorder or bicuspid aortic valve. I have found a range of useful resources online - I think I received very good general advice from the doctor who first diagnosed me, and what I've learned in the last three months has generally backed it up. However, there is nothing on the NHS website or BHF website. The two leading surgical centres for aneurysmal disease in England and Wales appear to be the Royal Brompton Hospital in London and the Liverpool Heart and Chest Hospital. I have joined a couple of facebook support groups, one for thoracic and ascending aneurysms and one for aneurysm awareness generally; I've picked up a lot of useful information though they're very American. I've been in touch with BHF to try and discuss some of the information needs and gaps for what is, apparently, not such a rare condition. If there are particular questions you are struggling with, I'd be very happy to share ...
Hi Julian
I am the same diagnosed 2 years ago 4.4cm tricuspid. I am awaiting the results of gene testing. I've had long Standing high blood pressure and I have a leaking aortic valve and left ventricle hypertrophy, no one seems that bothered about it. Then November 2017 I had an AF attach followed by 6 more about a month apart. Feb 19 I had a catheter ablation and was also diagnosed with moderate sleep apnea and issued with a CPAP Machine.
I feel quite unwell and not a little depressed and anxious., very fatigued and breathless at times. I don't know if my symptoms are from the aneurysm or what. Also they call mine a dilatation is that different to an aneurysm? From what I have read above 3. 5cm is called an aneurysm.
I see your post is 5 months ago how are you doing now? BTW I'm 61 female. Thanks I would be interested in anything you've found out.
Hi Scoobisu - really great to hear from you. I'm still on my journey of discovery about aneurysmal disease. I've now, 6 months since first diagnosis, had an MRI scan which suggests my aorta is fairly stable for the time being, though I'll reserve final judgement until I've had a detailed report and the images can be viewed by the doctors advising me. I've also had a clinical consultation (as a second opinion) with an experienced surgeon to look into PEARS surgery as an option to treat my aorta. I may not qualify for it immediately, but I'm convinced that this approach would be the right way to go for myself, and I think you should look into it. PEARS stands for 'Personalised External Aortic Root Support' and has primarily been used to treat people with Marfan-related aortic dilation, though more than 15 people with idiopathic tricuspid aneurysms have already received it. This is still classed as an 'emerging' option, though more than 200 operations have been successfully performed, and some are already out to 10 years, with no dissections, no requirement for further operations, no strokes or other major disasters. It's a much better safety record than for the established aorta replacement operations. PEARS can reverse aortic valve leakage, where this is secondary to the aneurysm or dilation (the term 'annulo-aortic ecstasia' may apply). I think you may be someone who could benefit greatly from this; there's a lot of information on the exstent.com website about the project; the basic idea is to implant a custom-made mesh - very much like a soft support stocking - wrapped around the aorta from the aortic valve to the brachiocephalic artery. By designing it at 95% of the current size of the aorta, the aorta can be gently squeezed to close up the leaking valve, if the enlarged aortic root is the only reason it's leaking. (The other obvious thing from what you say is to push and push to get effective treatment to control your blood pressure.) Hope this is helpful; I'd be really interested in finding out how you get on. I'd also recommend joining the (international) Facebook groups for Aortic Aneurysm awareness and Thoracic Aortic Aneurysm, though they are very dominated by North Americans, who don't have access to PEARS (yet); I've still gained a lot of insight into how people understand and experience this condition. Kind regards - Julian
Hi Julian thank you for the reply.
That's all very interesting. Is the PEARS open heart surgery... I will read fully but had a bad day yesterday, do you have any symptoms??
I will join the Facebook sites you've recommended thank you.
I have an appointment back at the cardiologist in May I'm hoping for something positive as I feel quite unwell.
I will have a good reading session soon. Thanks again Sue.
Hi Sue - yes, PEARS is open chest surgery, although as the aorta is not cut, it is normally performed at body temperature, without a heart-lung bypass machine. The operation usually takes 2 hours, rather than 4 or more for the alternatives. It's serious surgery, requires a highly skilled surgeon, and it's not risk-free; there have been two deaths in the first two hundred operations, though compared to the replacement operations, this is a very good record. And it's likely to be better for the next two hundred operations, whereas the replacement operations are probably being done as well as they ever will be. In your case, whether it is suitable may depend on the state of your aortic valve and other circumstances which will be a clinical decision only your doctors and you can make. But I do highly recommend reading the patient experiences on the PEARS website, and looking at some of the more general medical papers there too, and the other media reports.
And Sue, to answer your other question, I have no symptoms at all, though my aorta is very clearly enlarged on echo, CT and MRI scans, and I've been advised to limit activities to avoid dissection, so it affects my everyday life. All the best in preparing for your next clinic, in May!
Do you know what size your aorta is?
My ascending aorta, where the bulge is, is 4.6cm (I think) - all three different measurement systems gave the same result, which means future monitoring should be fairly easy because it implies that transthoracic echo, in my case, gives a clear view of the affected area. It's also a good way to assess whether my aortic valve is affected, or becomes affected later on. Your own situation may be different, depending on what the problem with your valve actually is. From my limited understanding (I'm not a doctor), the symptoms you describe would probably be down to the valve. The left ventricle enlargement could also be due to the heart trying to compensate for the valve. What have your doctors said so far?
JulianM,
Apologies for the late response but I have only just joined this group.
You may like to know about Aortic Dissection Awareness UK & Ireland. We are the UK patient organisation and also work with the British Heart Foundation and others. Our web site (still early days) is at aorticdissectionawareness.org and our Facebook Buddies group is facebook.com/groups/6377674... or search FB for "Aortic Dissection UK Buddies"
A good read for those wanting to know more about the aspects of Aortic Dissection and Aortic Aneurysms will do well to look at the IRAD site for patients and loved ones, livingwithdissection.iradon...
As well as actual dissection (or rupture) we all also deal with aortic aneurysms, including Abdominal (AAA) and thoracic (TAA). We have many members and buddies with Bicuspid Aortic Valve, which can be a marker for the risk of further aortic developments. There are multiple genetic associations, such as Marfans Syndrome, Ehlers-Danlos, Loeys-Dietz. A total of 30 or so genes have so far been identified as causing aneurysm/dissection and it is believed these are only about 30% of the genes which might play a role.
As background, I had a dissection in 2017 at an ascending diameter of 4.8 cm, though the dissection was further along where the diameter was more like 3.6 to 4.0 cm. My aorta had been monitored for 20 years, but I still dissected. I failed to take it seriously enough originally and am lucky to still be here.
In your particular terms, we (ADAUKI and our partners) are more than aware of this situation, as it is at the forefront of research into how dissection can be prevented, and what turns an aneurysm into a dissection.
As far as improving care, have a look at the "About" page on the ADAUKI site. Re. research and other improvements, see the Events page there, and for a fascinating insight into the current state of prevention research see Dr. Omar Jarral's presentation at youtu.be/LryJkWt-Ffg and slides at wkt.co.nz/uploads/9/8/6/7/9...
The original practice was to say that the risk of surgical intervention was high hence no-one would be operated on until the ascending aorta reached 5.5 cm, or 5 cm in Marfans. Things have moved on. Firstly, surgery is much safer nowadays, and it is also recognised that elective surgery is hugely safer than an emergency repair. Secondly IRAD in 2007 published a paper saying that nearly 60% of dissections occurred in people below the guideline 5.5 cm (this is 60% of actual dissections, not 60% of people who had aneurysms). Papers have since been published saying that the guideline diameters need to be reduced. There are known to be links between various genes (around 30 of them) and a maximum diameter before intervention, and this is an improvement. But why an aorta dissects is still not exactly know, so there is no absolute answer.
One extremely important thing is to control your blood pressure meticulously - 120 / 80 and be deadly serious about it.
HTH
Thanks, Cliff - I do appreciate and value the work of Aortic Dissection Awareness UK & Ireland and had the great privilege of meeting with Gareth Owens and discussing some of these issues. I am delighted to see that ADAUKI is engaging with NICE around a service framework on thoracic aortic disease and if there's any way I can help with that I'd be delighted. My discussion with Gareth was very helpful to me in his advice that I focus on questions of patient engagement, identify specific changes needed, and avoid straying into areas of clinical judgement where that's not appropriate. I am also looking to find others in the same situation as me ...
While I'm sure there's a genetic basis to my own dilated aorta, and would volunteer like a shot for any genetic studies, I have no genetic family history and my consultant cardiologist advises that as I show no signs of connective tissue syndromes, genetics would currently make no difference to my treatment so we're not pursuing that.
ADAUKI is legitimately focussed on dissections, their diagnosis, treatment and management after survival; as Gareth told me, dissection is much rarer than aneurysm. As my consultant cardiologist observes, dissection can happen without an aneurysm. I personally experienced this (second-hand) when a swimmer I was coaching suffered from a coronary artery dissection (he's survived, thanks to Bart's, and is now back in training). There's still definitely a support gap for people with non-syndromic thoracic aneurysms: I'm currently challenging both the NHS website provider and the BHF over the lack of specific and accurate information on their respective websites.
I'm aware of some of the publications from IRAD; one estimates that people with dilated thoracic aortas over 4.5cm make up 0.22 per cent of the population (and account for the majority of type A dissections, therefore at massive relative risk). In the UK, this would be >130,000 people (or, if we're only talking adults, still tens of thousands). The great majority would be non-syndromic with tricuspid valves. Where are we? How many are diagnosed? Where's our voice? What would the NHS do, how would we cope, if many more were diagnosed? There's something that doesn't really add up, here. I'm only seeing a handful of people as active participants on (international, Facebook) aortic aneurysm forums.
I'm still on a journey of learning about aneurysmal disease, finding that generally the more I learn, the less certain I get about many things! Personally, I'm trying to work out what I think is best for myself and find out whether and how the NHS can deliver it. I am actively discussing PEARS in clinic with a consultant cardiologist and a consultant thoracic surgeon as a basis for my personal treatment plan, and agree that 5.5cm is not the relevant criterion. The 2014 European guidelines say patient preference should be taken into account, but what does this really mean? Work in progress.
My reading of Elefteriades et al on dissection risk (in young weightlifters) is that with moderate dilation, such as 4.5cm, spikes below 200 for systolic BP are unlikely to cause dissection; but with greater enlargement, 5.5 to 6, even these (relatively normal) spikes could do it. The weightlifters who dissected were probably getting spikes towards 300. Keeping resting BP as measured at home below 120/80 is totally sensible; if I had hypertension, I'd want it treated, but my cardiologist supports me in aiming to do this through exercise and diet, not medication. Exercise - within the limits set by published guidance, and confirmed personally by a senior sports cardiologist who reviewed my diagnosis - definitely takes my BP above 120/80 during the activity (I had an exercise stress test on a static bike, with BP measurements, when I was diagnosed), but I don't worry about that; the overall effect is what matters. However, my employer has accepted that I am not to engage in any heavy lifting tasks, and I am scrupulous in keeping to this.
Hi Julian,
Great to hear you have done all this research. Don't forget to join the ADAUKI Facebook group if that's your thing. No doubt Gareth will have suggested that!
I have difficulty myself (and everything I post here is my opinion, not that of ADAUKI) with the progression of Elefteridaes' work, and I have been paying close attention to this issue as I dissected at "only" 4.8 cm after 20 years of very slow growth, at a location which was probably only 4 cm or a tad more, as I want to know why I nearly died. In his first paper Thorac Surg. 2002 Nov;74(5):S1877-80 he clearly saw the "hinge point" as he calls it at around 6 cm and settled on 5.5 cm as a safety margin. IRAD's paper in 2007 saying 5.5 cm was not adequate was acknowledged by him, but only in 2015 (Cardiology 2015;131:265–272) did he look at combining the two sets of data and the resultant graph suggests that "4.0-4.4 cm" is an increased risk threshold, yet the recommendation of 5.5 didn't change. His most recent paper (Jan 2019) is the first sign that he has really changed his view "Descending threshold for ascending aortic aneurysmectomy: Is it time for a 'left-shift' in guidelines?" Ziganshin BA, Zafar MA, and Elefteriades JA, but he has also published work on the various diameters associated with different genetic changes - see ncbi.nlm.nih.gov/pmc/articl... So all in all I am not really sure any more where this issue stands or what his position is, or what the total view is. I am sure that "you're below 5.5 cm so you're fine" is wrong.
Part of the problem, as you point out, is that screening for AD risk by aneurysm diameter is (a) not particularly accurate and (b) would impose a huge screening burden on the NHS. Screening for diameter when a thoracic aneurysm is incidentally found does seem to be a sensible compromise from the point of view of resources, but it doesn't help those who dissect despite this (like me). The AAA screening program of a wide population is a bit more feasible as abdominal aneurysms are a little more predictable, but there is still more to it than diameter. That program has been made feasible by being limited to men over 65. So women, and men below 65 don't get screened. This is entirely a statistical and resource issue, and until there is a more reliable way of predicting who will dissect (and as you say, some will dissect even without an aneurysm) then we are pretty much stuck with it.
My aneurysm/dissection more than likely has a genetic basis to it too, especially from what my surgeon told me of what he found when he was in there and the difficulties he faced. But I had a 28-gene-panel test during follow-up (to establish any risks to my children) and I was blank. This does not mean I have no genetic element to it; two separate research sources have independently told me that the current number of known genes is probably only about 30% of genes which contribute to aortic disease - they know this due to post-operative examination of tissues vs. genetic tests.
To my mind, if you are detected with an aneurysm, you should always have a genetic test. I'm not entirely sure it would make no difference; the genetics paper above shows a graph of diameter vs. gene mutations (Fig 1) so if you have any of those it definitely would make a difference to a prophylactic intervention decision, even nowadays. I have no classical connective tissue disorder markers, though I am tall and was skinny (when young!), have AF, had a pneumothorax when younger, all of which can be marfanoid characteristics. But a negative test also doesn't mean no genetic problem.
Your BP awareness is fantastic - I wish I had taken more note for myself. No, 120/80 won't be maintained during exercise. But there is also an aspect talked about of "dP/dT" or, the change in blood pressure per interval of time. High dP/dT essentially equals a surge, like water hammer in a pipe, and one doctor in the US always asks what their dissectee was doing immediately before their dissection; many were doing an identifiable activity which would have given them a high dP/dT. In my case I was painting the outside of a house and had a hose and brush to clean the next bit. One bit I couldn't quite reach, so I did a little jump and bang, dissection. So, nice clean smooth activities are the order of the day.
On another point, PEARS would have done me no good as I dissected just below the left subclavian. But definitely worth talking to the experts.
Final point, do see if the John Ritter genetics program would be interested in a sample for their genome project - johnritterresearchprogram.o... I've sent my own DNA sample off.
Best of luck and keep healthy.
Thank you so much for sharing your own experience and thoughts. I have found it immensely helpful to listen to a variety of perspectives and am very much in learning mode. Statistics are no consolation when a 'low risk' event has happened; I'm so glad you've survived to tell the tale. I totally take the point about avoiding rapid increases in blood pressure; for other reasons, I'd already changed my race strategy (for triathlon) to avoid power-surges on the bike and run. But sometimes, you just have to move, to get out of the way of trouble. In any case, I've been advised not to take part in any competitive sport, and the 2014 guidelines I've seen on this point confirm that even if my aorta is stable, its size would mean this advice is unlikely to change.
onlinejacc.org/content/accj...
I've now listened to Dr Omar Jarral's presentation; my take is that while it confirms there's some very interesting modelling work on fluid dynamics and stresses in the aortic wall, this is still years away from translation into a 'Q-risk' equivalent for ascending aortic dilation. Whereas Q-risk is basically guiding a decision about prescribing statins (cheap drugs, easily discontinued if they don't work/don't suit), the aortic equivalent concerns a decision about open chest surgery, which is much tougher both for individual patients like me and for healthcare systems like the NHS.
The Ziganshin, Zafar and Elefteriades paper on 'Descending threshold for ascending aortic aneurysmectomy: Is it time for a "left-shift" in guidelines?' is also very interesting, though I find it impossible to reconcile the estimated annual risks of aortic dissection given in Figure 1 with the only prospective study I've found of real-world dissection risk in non-syndromic aneurysms, which is Kim et al, 2016, 'Risk of Aortic Dissection in the Moderately Dilated Ascending Aorta' from Massachusetts, i.e.
onlinejacc.org/content/68/1...
I'll follow up the Ziganshin observation about shifting CT assessment methods; I don't know if the semi-automatic centre-line method is being used here in the UK. If so, that might explain the discrepancy between my reported size and what I saw when looking at my scans with a surgeon. (A sobering experience; definitely a bit larger. And consultants inevitably have different takes on dissection risk, even when looking at the same data.)
On Ziganshin's estimate of dissection risk, the PEARS follow-up, >600 patient years without a dissection, where at least 12 would have been expected, based on size alone, is brilliant. However, on the Kim estimate, it could take 1,000 years of follow-up to see one dissection. Actually, I think the PEARS data are greatly enhanced by the fact that most of the people who have received it have Marfan or had fast-growing aortas, many larger than 4.5cm at operation; there are also modelling studies of the kind discussed by Dr Jarrell showing the diminution of strain on the aortic wall and both human and animal pathological evidence of re-modelling of the aortic wall inside the protective support.
As you say, PEARS can't protect the whole aorta; I'm lucky that my own dilation is apparently focused on the root and proximal ascending aorta.
I'm totally open-minded about the genetics, more than willing to volunteer samples to the John Ritter Foundation, though I'd want to discuss with my cardiologist to see how feasible it is to share the scan data (it's been a huge challenge, just getting it transferred between different NHS trusts). But there's a lot else to discuss which won't depend on genetics at this stage.
Thanks Julian. A couple of very interesting references there I had not seen before. I will spend some time looking at these.
Thanks very much for your own input on this. I think everyone at the edge of aortic medicine recognises that there are still many unknowns; my own approach and yours is clearly to learn as much as you can about your own situation and work with your doctors to do the best you can at the moment. My focus at present is ensuring my follow up is managed by experts (I dissected on holiday in New Zealand, so never really got into the UK system properly - being corrected in early June 
) and also ensuring the best knowledge is used for my first (and other?)-degree relatives in case my situation does prove to be genetic. I don't want them judged against 5.5 cm! Not a hugely great place to be, at the forefront of current knowledge, so that's twice for me now, with my AF at the time that ablations were brand new.
As an update, I had my first repeat echo last week. 9 months after first diagnosis, it shows growth from 4.6 to 4.9cm in the bulge. My ST junction is unchanged at exactly 3.4cm; the operator was not informed of previous measurements. The surgeon who is advising me would operate at 5.0cm, so I'm hoping for a PEARS operation within the next year. I've joined ADAUKI and I am also in discussion with the British Heart Foundation to see what I can do to assist as a volunteer. I'm putting any genetic enquiries on hold though I don't rule out a connective tissue disorder of some (mild) kind. I do have arachnodactyly, not shared with other members of my family. However, now that surgery is in prospect, I don't want any tests that are not absolutely required and relevant to the surgical decisions. As you suggest, imaging to check where my arteries are, and what shape they are in, may be quite important. What might become relevant later, though, is the assessment of my ongoing dissection risk in deciding how far to go beyond rehab into training for renewed sport participation. I'm extremely relieved, now, that my aneurysm was detected exactly when it was!
Glad to hear this Julian. Hope also that you are a candidate for PEARS.
Thanks, Cliff. Yes, definitely a candidate! But we haven't set a date, and there are still screening tests and other matters to be settled first.
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